Gain-of-function mutation in complement C2 protein identified in a patient with aHUS

Urban, Aleksandra; Volokhina, Elena; Felberg, Anna; Stasilojc, Grzegorz; Blom, Anna M; Jongerius, Ilse; van den Heuvel, Lambertus; Thiel, Marcel; Oldziej, Stanislaw; Arjona, Emilia; Rodriguez de Cordoba, Santiago; Okroj, Marcin

doi:10.1016/j.jaci.2020.02.014

Gain-of-function mutation in complement C2 protein identified in a patient with aHUS

Author:

Urban, Aleksandra

Volokhina, Elena ; Felberg, Anna ; Stasilojc, Grzegorz ; Blom, Anna M ; Jongerius, Ilse ; van den Heuvel, Lambertus ; Thiel, Marcel ; Oldziej, Stanislaw ; Arjona, Emilia ; Rodriguez de Cordoba, Santiago ; Okroj, Marcin

Keywords:

Science & Technology, Life Sciences & Biomedicine, Allergy, Immunology, C3, Atypical Hemolytic Uremic Syndrome, Autoantibodies, Complement Activation, Complement C2, Gain of Function Mutation, Genetic Association Studies, Genetic Predisposition to Disease, Guanine Nucleotide-Releasing Factor 2, Humans, Mutation, Missense, Phenotype, 1107 Immunology, 3204 Immunology